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  • Human ABCA1 wild-type allele is located in the vicinity of 9q31 and is approximately 147 kb in length. This allele, which encodes ATP-binding cassette sub-family A member 1 protein, is involved in intracellular cholesterol transport. Mutation of the gene is associated with high density lipoprotein deficiency type 2 (autosomal dominant) and Tangier disease.
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